Canonical Allele Identifier: CA427087400

Gene: GGCX

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85554287G>A , CM000664.2:g.85554287G>A	GRCh38
NC_000002.11:g.85781410G>A , CM000664.1:g.85781410G>A	GRCh37
NC_000002.10:g.85634921G>A	NCBI36
NG_011811.2:g.12248C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000821.7:c.745C>T MANE Select	NP_000812.2:p.Leu249=
ENST00000233838.9:c.745C>T MANE Select	ENSP00000233838.3:p.Leu249=
NM_000821.5:c.745C>T	NP_000812.2:p.Leu249=
NM_000821.6:c.745C>T	NP_000812.2:p.Leu249=
NM_001142269.2:c.574C>T	NP_001135741.1:p.Leu192=
NM_001142269.3:c.574C>T	NP_001135741.1:p.Leu192=
NM_001142269.4:c.574C>T	NP_001135741.1:p.Leu192=
ENST00000233838.8:c.745C>T	ENSP00000233838.3:p.Leu249=
ENST00000430215.7:c.574C>T	ENSP00000408045.3:p.Leu192=
ENST00000465637.5:n.178+4719C>T
ENST00000473665.1:n.238C>T
ENST00000473665.2:n.4789C>T
ENST00000482662.2:n.2551C>T
ENST00000685865.1:n.1148C>T
ENST00000687250.1:n.848C>T
ENST00000687995.1:n.1097C>T
ENST00000688205.1:c.*338C>T	ENSP00000509673.1:n.*338C>T
ENST00000688788.1:n.1129-790C>T
ENST00000689276.1:c.676C>T	ENSP00000510012.1:p.Leu226=
ENST00000689576.1:c.745C>T	ENSP00000508712.1:p.Leu249=
ENST00000690108.1:c.*401C>T	ENSP00000510617.1:n.*401C>T
ENST00000690468.1:c.466C>T	ENSP00000509078.1:p.Leu156=
ENST00000690595.1:c.215-790C>T	ENSP00000508979.1:n.215-790C>T
ENST00000691348.1:c.574C>T	ENSP00000509369.1:p.Leu192=
ENST00000691410.1:c.*322C>T	ENSP00000508479.1:n.*322C>T
ENST00000693287.1:c.61C>T	ENSP00000510264.1:p.Leu21=
ENST00000693681.1:c.203-790C>T	ENSP00000510789.1:n.203-790C>T
XM_005264259.3:c.745C>T	XP_005264316.1:p.Leu249=
XM_005264259.5:c.745C>T	XP_005264316.1:p.Leu249=
XM_011532764.1:c.68-790C>T	XP_011531066.1:n.68-790C>T
XM_011532764.3:c.68-790C>T	XP_011531066.1:n.68-790C>T
XM_011532765.1:c.68-790C>T	XP_011531067.1:n.68-790C>T
XM_011532765.3:c.68-790C>T	XP_011531067.1:n.68-790C>T
XM_017003803.2:c.574C>T	XP_016859292.1:p.Leu192=
XR_001738703.2:n.810C>T
XR_939677.1:n.810C>T